Study to Evaluate Patients With Cerebrotendinous Xanthomatosis (RESTORE)

CTX Clinical Trial

Official title:

A Phase 3 Study to Evaluate the Effects of Chenodeoxycholic Acid in Adult and Pediatric Patients With Cerebrotendinous Xanthomatosis

Clinical Trial Details — Status: Completed

Administrative data

• NCT number: NCT04270682
• Other study ID #: Cheno-CTX-301
• Status: Completed
• Phase: Phase 3
• Start date: January 31, 2020
• Est. completion date: October 4, 2023

Study information

• Verified date: November 2023
• Source: Mirum Pharmaceuticals, Inc.
• Contact: n/a
• Is FDA regulated: No
• Study type: Interventional

Clinical Trial Summary

The study is made up of two cohorts: a randomized double-blind crossover (placebo withdrawal with rescue) study among patients ≥ 16 years of age (adult cohort) and an open-label dose titration study among pediatric patients ≥1 month and <16 years of age (pediatric cohort)

Recruitment information / eligibility

• Status: Completed
• Enrollment: 18
• Est. completion date: October 4, 2023
• Est. primary completion date: July 13, 2023
• Accepts healthy volunteers: No
• Gender: All
• Age group: 1 Month and older

Eligibility

Inclusion Criteria:

1. Male or female at least 1 month or older at screening.

2. Clinical diagnosis of CTX with biochemical confirmation.

3. Women of childbearing potential must agree to the use of one highly reliable method of contraception during the study, plus one additional barrier method during sexual activity.

4. Males must be surgically sterile, or males and their sexual partners must together agree to use medically accepted methods of contraception that are considered highly reliable during the course of the study.

Exclusion Criteria:

1. Genetic testing does not confirm CTX.

2. Malabsorption disorder or confounding inflammatory gastrointestinal condition (for example, irritable bowel syndrome).

3. Documented history of heart failure.

4. Treated with medications which impact bile acid absorption such as bile acid sequestering agents (eg, cholestyramine, colestipol, aluminum-based antacids.

5. Treated with cholic acid medication.

6. Female patient who is pregnant, plans to become pregnant during the course of the study, or is breastfeeding.

7. Positive at screening for the human immunodeficiency virus (HIV) or markers indicating acute or chronic hepatitis B infection or hepatitis C infection.

Related Conditions & MeSH terms

• CTX
• Xanthomatosis, Cerebrotendinous

Intervention

Drug:
• Blinded CDCA 250 mg TID
Adult cohort patients will receive blinded 250 mg CDCA TID or placebo during the double-blind periods based upon their treatment assignment.
• Placebo
Adult cohort patients will receive blinded 250 mg CDCA TID or placebo during the double-blind periods based upon their treatment assignment.
• Open-Label CDCA 250 mg TID
Adult cohort patients will receive open-label 250 mg CDCA TID during the run-in and washout periods of the study or as rescue medication during the double-blind periods, if needed, based on clinical symptoms.
• Rescue Medication CDCA 250 mg TID
CDCA 250 mg TID will be provided as rescue medication during the double-blind periods, if needed, based on laboratory results.
• CDCA Weight-Based Dose TID
Patients in the pediatric cohort will complete a weight-based dose titration to a tolerated dose and will maintain that tolerated dose for the remainder of the study. Pediatric cohort dosing of CDCA will not exceed an equivalent dose of 750 mg/day.

Locations

Country	Name	City	State
Brazil	Travere Investigational Site	Fortaleza	CE
Brazil	Travere Investigational Site	Porto Alegre	RS
Brazil	Travere Investigational Site	São Paulo	SP
United States	Travere Investigational Site	Aurora	Colorado
United States	Travere Investigational Site	Austin	Texas
United States	Travere Investigational Site	Columbus	Ohio
United States	Travere Investigational Site	Great Neck	New York
United States	Travere Investigational Site	Iowa City	Iowa
United States	Travere Investigational Site	New Orleans	Louisiana
United States	Travere Investigational Site	New Orleans	Louisiana
United States	Travere Investigational Site	Orlando	Florida
United States	Travere Investigational Site	Seattle	Washington

Sponsors (1)

Lead Sponsor	Collaborator
Mirum Pharmaceuticals, Inc.

Countries where clinical trial is conducted

United States,  Brazil, 

Outcome

Type	Measure	Description	Time frame	Safety issue
Primary	Change in Bile Alcohols.	Change from baseline in bile alcohols at the end of each DB treatment period.	Week 4 and Week 16